enabling personalized medicine through exome sequencing in the u.s. air force

Conditions: Healthy Adults; Genetic Predisposition to Disease

Summary: the milseq project is a nonrandomized, prospective pilot study of whole exome sequencing (wes) in the u.s. air force. the purpose of this study is to explore the implementation of wes into clinical medical care in the military health system.

the objective of this effort is to investigate: (a) military healthcare providers' (hcps') genomic knowledge before and after receiving a genomic educational primer and after disclosing whole exome sequencing (wes) results to begin to assess the genomic educational needs of military hcps; (b) active-duty airmen's knowledge and perceptions of genomic sequencing (gs); (c) reasons why active-duty airmen choose to participate, or not to participate, in research involving gs; (d) how wes study participants, including hcps and sequenced active-duty airmen (patient-participants), respond to and use wes results; (e) the collection of medical, behavioral, and healthcare utilization outcomes related to the clinical integration of wes in the military; (f) how return of wes results and integration into the electronic medical record (emr) do or do not impact perceptions of mission readiness and duty assignments. given the lack of prior research in this area in the air force and the broad number of topics of interest, the aims of the study are predominantly exploratory and results may be hypothesis generating. the milseq project will be conducted in two sequential phases. phase i of the study will recruit, consent, and enroll approximately 75 ostensibly healthy active-duty airmen who receive medical care in military primary care, internal medicine, and/or family practice settings to take a baseline survey. this survey will be administered to explore active-duty airmen's perceptions of and preferences for gs, identify motivations and barriers to active-duty airmen participating in a wes study, and assess interest in taking part in the wes study. phase ii of the study will recruit, consent, and enroll 75 ostensibly healthy active-duty airmen who receive medical care in military primary care, internal medicine and/or family practice settings who in their baseline survey expressed interest in receiving wes through a research study. wes will be performed on each enrolled patient-participant. the result will be disclosed by an hcp-participant and permanently integrated into the patient-participant's emr. phase ii will also recruit 10-20 military primary care, internal medicine, and/or family practice hcps and consent them to participate in the study. the hcps will receive an educational primer in genomics and will disclose wes results to airmen participants. there are a number of potential benefits and challenges to incorporating genomic medicine into the military, some that are relevant to the broader civilian community, but some that are unique to this population. some of these challenges include: (a) how gs may or may not affect the perception of fitness for duty; (b) how genomic discrimination may or may not occur in the military setting; (c) how to best deal with unanticipated findings; and (d) how genomic results can be practically integrated into a military setting. in this pilot study, these potential opportunities and challenges will be explored, which will provide a basis for future study and begin to inform decisions regarding clinical care of active-duty service members.

Eligibility criteria:
patient-participant inclusion criteria: * 18 years or older * an active air force airman * fluent in english * seen or eligible to be seen by a provider at wilford hall ambulatory surgical center at joint base san antonio (jbsa) lackland air force base healthcare provider-participant inclusion criterion * an active or department of defense civilian primary care, internal medicine, or family practice healthcare provider (physician, physician assistant, or nurse practitioner) or resident practicing at wilford hall ambulatory surgical center at jbsa lackland air force base patient-participant exclusion criteria: * those who do not meet the above inclusion criteria * those with clinically concerning scores on anxiety and distress scales in baseline survey * trainees (basic military training or tech school) * airmen with an active change of duty station order or deployment order and expected to leave san antonio in 6 months or less * airmen expected to be discharged from the air force in 6 months or less healthcare provider-participant exclusion criteria: * providers who do not meet the above inclusion criteria * providers with an active change of duty station order or deployment order and expected to leave san antonio in 6 months or less * providers expected to be discharged from the air force in 6 months or less

Keywords: whole genome sequencing whole exome sequencing military air force disease susceptibility genetic predisposition to disease disease attributes pathologic processes